Incidental Mutation 'R5281:C2cd4c'
ID 402785
Institutional Source Beutler Lab
Gene Symbol C2cd4c
Ensembl Gene ENSMUSG00000045912
Gene Name C2 calcium-dependent domain containing 4C
Synonyms 4932409I22Rik, LOC237397, Fam148c
MMRRC Submission 042866-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # R5281 (G1)
Quality Score 222
Status Not validated
Chromosome 10
Chromosomal Location 79442688-79449859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79448878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 90 (P90S)
Ref Sequence ENSEMBL: ENSMUSP00000136013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059699] [ENSMUST00000178228]
AlphaFold Q5HZI2
Predicted Effect probably benign
Transcript: ENSMUST00000059699
AA Change: P90S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059433
Gene: ENSMUSG00000045912
AA Change: P90S

DomainStartEndE-ValueType
low complexity region 75 94 N/A INTRINSIC
low complexity region 174 193 N/A INTRINSIC
C2 319 419 1.19e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178228
AA Change: P90S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136013
Gene: ENSMUSG00000045912
AA Change: P90S

DomainStartEndE-ValueType
low complexity region 75 94 N/A INTRINSIC
low complexity region 174 193 N/A INTRINSIC
C2 319 419 1.19e-4 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight but normal glucose homeostasis and pancreas development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A G 7: 82,178,142 (GRCm39) H535R probably damaging Het
Aff4 A G 11: 53,263,115 (GRCm39) E45G probably damaging Het
Ano10 A G 9: 122,090,552 (GRCm39) S254P probably damaging Het
Arhgap21 T A 2: 20,854,127 (GRCm39) E1745V probably damaging Het
Atp10b T C 11: 43,145,163 (GRCm39) L1302P probably damaging Het
Btn2a2 A G 13: 23,663,002 (GRCm39) V316A probably damaging Het
Cant1 A T 11: 118,299,696 (GRCm39) W255R probably damaging Het
Cenpe A C 3: 134,935,911 (GRCm39) K449Q possibly damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Dmbt1 T C 7: 130,684,349 (GRCm39) V615A probably damaging Het
Dnajc5b T C 3: 19,664,724 (GRCm39) V174A probably benign Het
Dst C A 1: 34,296,863 (GRCm39) H5751N probably benign Het
Eif2d A G 1: 131,101,080 (GRCm39) E562G probably damaging Het
Epha10 A T 4: 124,807,781 (GRCm39) probably benign Het
Epha4 C T 1: 77,351,504 (GRCm39) G917D probably benign Het
Fap C T 2: 62,363,305 (GRCm39) probably null Het
Fsd2 T C 7: 81,202,733 (GRCm39) E282G probably benign Het
Gls A T 1: 52,230,316 (GRCm39) M136K probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gusb T C 5: 130,027,367 (GRCm39) T313A probably benign Het
Ints7 T C 1: 191,347,883 (GRCm39) Y752H possibly damaging Het
Krt17 G A 11: 100,151,527 (GRCm39) Q89* probably null Het
Mfsd4b4 T C 10: 39,768,467 (GRCm39) I209V probably benign Het
Nr0b2 A G 4: 133,283,335 (GRCm39) I191V probably benign Het
Or51af1 T C 7: 103,141,180 (GRCm39) I302V probably benign Het
Pcdhb21 T C 18: 37,646,988 (GRCm39) M39T probably benign Het
Pds5b T G 5: 150,670,073 (GRCm39) Y354D probably benign Het
She A G 3: 89,756,888 (GRCm39) D314G probably benign Het
Shpk T C 11: 73,105,946 (GRCm39) M266T probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slfn4 T G 11: 83,078,025 (GRCm39) V271G probably damaging Het
Slitrk6 C T 14: 110,987,805 (GRCm39) R634H probably damaging Het
Trrap T C 5: 144,750,313 (GRCm39) F1555L probably benign Het
Vldlr A C 19: 27,221,631 (GRCm39) E665D probably benign Het
Whrn T C 4: 63,336,664 (GRCm39) T633A probably benign Het
Xylt2 A G 11: 94,559,616 (GRCm39) V342A probably benign Het
Zfp800 A T 6: 28,243,165 (GRCm39) V600E probably benign Het
Other mutations in C2cd4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02660:C2cd4c APN 10 79,449,136 (GRCm39) missense probably benign
IGL02950:C2cd4c APN 10 79,448,665 (GRCm39) missense probably damaging 1.00
R0400:C2cd4c UTSW 10 79,449,043 (GRCm39) missense probably damaging 1.00
R0925:C2cd4c UTSW 10 79,448,584 (GRCm39) missense probably benign
R1428:C2cd4c UTSW 10 79,448,064 (GRCm39) missense probably damaging 0.97
R2017:C2cd4c UTSW 10 79,448,823 (GRCm39) missense possibly damaging 0.69
R2111:C2cd4c UTSW 10 79,448,255 (GRCm39) missense probably damaging 1.00
R4951:C2cd4c UTSW 10 79,448,839 (GRCm39) missense possibly damaging 0.93
R4982:C2cd4c UTSW 10 79,449,075 (GRCm39) missense probably benign 0.01
R5006:C2cd4c UTSW 10 79,448,341 (GRCm39) missense probably benign 0.12
R5699:C2cd4c UTSW 10 79,448,385 (GRCm39) missense probably benign 0.00
R5870:C2cd4c UTSW 10 79,448,043 (GRCm39) missense possibly damaging 0.93
R8221:C2cd4c UTSW 10 79,448,482 (GRCm39) missense probably damaging 1.00
R9753:C2cd4c UTSW 10 79,448,067 (GRCm39) missense probably damaging 1.00
Z1176:C2cd4c UTSW 10 79,448,299 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TCACTGTGGAAAAGGGACTC -3'
(R):5'- GTCCCTTGTATAGCAACGTGC -3'

Sequencing Primer
(F):5'- ACTCCTTGCGCCTGGTGTG -3'
(R):5'- TGCTGACTCCGGACAAGATC -3'
Posted On 2016-07-22